Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Joint Authors

Lin, Benjamin R.
Frausto, Ricardo F.
Vo, Rosalind C.
Chiu, Stephan Y.
Chen, Judy L.
Aldave, Anthony J.

Source

Journal of Ophthalmology

Issue

Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-9, 9 p.

Publisher

Hindawi Publishing Corporation

Publication Date

2016-06-12

Country of Publication

Egypt

No. of Pages

9

Main Subjects

Medicine

Abstract EN

Purpose.

To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD).

Methods.

A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders.

The proband’s parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected.

The exons and exon-intron boundaries of UBIAD1 were screened using Sanger sequencing.

Identified mutations were screened for in 200 control chromosomes.

In silico analysis predicted the impact of identified mutations on protein function and structure.

Results.

Slit lamp examination of the proband revealed findings consistent with SCD.

Corneas of the family members appeared unaffected.

Screening of UBIAD1 in the proband identified a novel heterozygous c.308C>T mutation, predicted to encode the missense amino acid substitution p.(Thr103Ile).

This mutation was not identified in any of the family members or in 200 control chromosomes and was predicted to be damaging to normal protein function and structure.

Conclusions.

We present a novel heterozygous de novo missense mutation in UBIAD1, p.(Thr103Ile), identified in a patient with classic clinical features of SCD.

This highlights the value of genetic testing in clinical diagnostic settings, even in the absence of a positive family history.

American Psychological Association (APA)

Lin, Benjamin R.& Frausto, Ricardo F.& Vo, Rosalind C.& Chiu, Stephan Y.& Chen, Judy L.& Aldave, Anthony J.. 2016. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology،Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1109878

Modern Language Association (MLA)

Lin, Benjamin R.…[et al.]. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology No. 2016 (2016), pp.1-9.
https://search.emarefa.net/detail/BIM-1109878

American Medical Association (AMA)

Lin, Benjamin R.& Frausto, Ricardo F.& Vo, Rosalind C.& Chiu, Stephan Y.& Chen, Judy L.& Aldave, Anthony J.. Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy. Journal of Ophthalmology. 2016. Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1109878

Data Type

Journal Articles

Language

English

Notes

Includes bibliographical references

Record ID

BIM-1109878